Incidental Mutation 'R6383:Gli3'
ID 515463
Institutional Source Beutler Lab
Gene Symbol Gli3
Ensembl Gene ENSMUSG00000021318
Gene Name GLI-Kruppel family member GLI3
Synonyms Bph, brachyphalangy
MMRRC Submission 044532-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6383 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 15638308-15904611 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15898140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 740 (D740G)
Ref Sequence ENSEMBL: ENSMUSP00000106137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110510]
AlphaFold Q61602
Predicted Effect probably damaging
Transcript: ENSMUST00000110510
AA Change: D740G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106137
Gene: ENSMUSG00000021318
AA Change: D740G

DomainStartEndE-ValueType
low complexity region 120 136 N/A INTRINSIC
low complexity region 204 220 N/A INTRINSIC
low complexity region 324 341 N/A INTRINSIC
low complexity region 403 421 N/A INTRINSIC
ZnF_C2H2 480 505 1.53e-1 SMART
ZnF_C2H2 513 540 1.23e0 SMART
ZnF_C2H2 546 570 3.16e-3 SMART
ZnF_C2H2 576 601 4.17e-3 SMART
ZnF_C2H2 607 632 1.4e-4 SMART
low complexity region 703 726 N/A INTRINSIC
low complexity region 756 763 N/A INTRINSIC
low complexity region 849 880 N/A INTRINSIC
low complexity region 934 944 N/A INTRINSIC
low complexity region 1024 1038 N/A INTRINSIC
low complexity region 1081 1095 N/A INTRINSIC
low complexity region 1166 1175 N/A INTRINSIC
Meta Mutation Damage Score 0.8302 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 97% (73/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants die perinatally with gross polydactyly, multiple craniofacial defects, and frequently, exencephaly. Heterozygotes exhibit enlarged interfrontal bone and extra preaxial digits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,286,343 (GRCm39) M2497K probably benign Het
Abtb2 C T 2: 103,397,721 (GRCm39) T217I probably damaging Het
Adam29 T A 8: 56,324,543 (GRCm39) N637I probably damaging Het
Adgb T A 10: 10,325,772 (GRCm39) E59V probably damaging Het
Adh7 C T 3: 137,933,778 (GRCm39) R312C probably benign Het
Adprh A G 16: 38,267,814 (GRCm39) I157T probably damaging Het
Ap2b1 T C 11: 83,237,651 (GRCm39) S572P probably damaging Het
Asic1 T C 15: 99,596,761 (GRCm39) L519P probably damaging Het
Atp2a2 G C 5: 122,639,712 (GRCm39) L13V probably benign Het
Bst2 A T 8: 71,989,932 (GRCm39) I47N possibly damaging Het
Cacng6 G A 7: 3,473,509 (GRCm39) probably null Het
Cenpe A G 3: 134,957,289 (GRCm39) E1849G probably damaging Het
Cep295 T A 9: 15,244,050 (GRCm39) T213S probably damaging Het
Chia1 A G 3: 106,039,127 (GRCm39) T406A probably benign Het
Chmp4c G T 3: 10,432,277 (GRCm39) K62N probably damaging Het
Cldn15 A G 5: 136,996,979 (GRCm39) T7A probably benign Het
Cmpk2 T A 12: 26,528,019 (GRCm39) M412K probably benign Het
Cnnm1 T C 19: 43,453,705 (GRCm39) probably null Het
Cubn A C 2: 13,432,646 (GRCm39) probably null Het
Dop1b T C 16: 93,579,136 (GRCm39) V1668A possibly damaging Het
Erg28 T A 12: 85,863,203 (GRCm39) Y77F probably damaging Het
F830045P16Rik C T 2: 129,378,358 (GRCm39) A9T probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gpat3 A T 5: 101,041,010 (GRCm39) M357L probably benign Het
Gpr179 A G 11: 97,227,973 (GRCm39) V1394A possibly damaging Het
Grn T A 11: 102,327,621 (GRCm39) probably benign Het
H2-Q6 G A 17: 35,647,359 (GRCm39) probably null Het
Igsf3 A G 3: 101,342,964 (GRCm39) T514A probably benign Het
Il1r1 A G 1: 40,352,495 (GRCm39) D558G possibly damaging Het
Irx4 T C 13: 73,415,832 (GRCm39) M207T possibly damaging Het
Kap T C 6: 133,828,920 (GRCm39) I54V probably benign Het
Kdm2b G A 5: 123,072,841 (GRCm39) R340C probably damaging Het
Lipo3 T A 19: 33,533,831 (GRCm39) M334L probably benign Het
Lmbrd1 C T 1: 24,745,115 (GRCm39) L152F probably damaging Het
Ltbp1 G A 17: 75,666,452 (GRCm39) V1382I probably damaging Het
Map3k4 C T 17: 12,468,470 (GRCm39) D1008N possibly damaging Het
Mcf2l T C 8: 12,929,912 (GRCm39) probably benign Het
Mecom T G 3: 30,051,875 (GRCm39) D180A probably damaging Het
Meis1 T C 11: 18,891,741 (GRCm39) D269G probably benign Het
Myh7 A C 14: 55,226,351 (GRCm39) S430A probably benign Het
Myo1h A G 5: 114,474,325 (GRCm39) I439V probably damaging Het
Nat1 T C 8: 67,944,134 (GRCm39) V170A possibly damaging Het
Nlrp12 A G 7: 3,282,673 (GRCm39) L742P probably damaging Het
Nlrp4c A G 7: 6,069,052 (GRCm39) T318A probably benign Het
Or4d10 T A 19: 12,051,727 (GRCm39) I90F probably damaging Het
Or4k47 T A 2: 111,451,531 (GRCm39) N296I probably benign Het
Or51ai2 A G 7: 103,587,030 (GRCm39) I148V probably benign Het
Or8g33 G T 9: 39,337,530 (GRCm39) T279N probably damaging Het
Or8g35 A T 9: 39,381,926 (GRCm39) L32Q probably damaging Het
Otop3 A G 11: 115,235,898 (GRCm39) E529G probably damaging Het
Parp6 T C 9: 59,531,222 (GRCm39) Y35H probably damaging Het
Pcdhb4 A C 18: 37,441,074 (GRCm39) D128A probably damaging Het
Phldb2 C T 16: 45,569,113 (GRCm39) D1249N probably damaging Het
Pramel30 A T 4: 144,059,717 (GRCm39) *476L probably null Het
Ptpn12 T A 5: 21,192,466 (GRCm39) K765* probably null Het
Ptprb T A 10: 116,182,912 (GRCm39) Y1529* probably null Het
Ptprc A T 1: 138,006,189 (GRCm39) Y798N possibly damaging Het
Sdk2 G A 11: 113,723,091 (GRCm39) T1300I probably damaging Het
Slc28a2b T C 2: 122,355,288 (GRCm39) I555T probably benign Het
Sptbn2 G A 19: 4,782,524 (GRCm39) V487I possibly damaging Het
Sptbn5 A G 2: 119,876,750 (GRCm39) probably benign Het
Srpk1 A G 17: 28,809,036 (GRCm39) S648P probably damaging Het
Stard9 T C 2: 120,496,888 (GRCm39) probably null Het
Tmem135 A T 7: 88,793,878 (GRCm39) I388N probably damaging Het
Top3a A T 11: 60,640,285 (GRCm39) I446N probably benign Het
Trpv1 T C 11: 73,136,862 (GRCm39) S482P probably damaging Het
Ugt3a1 C T 15: 9,306,541 (GRCm39) A230V probably benign Het
Vmn2r15 A C 5: 109,441,092 (GRCm39) Y255* probably null Het
Vmn2r60 A G 7: 41,765,895 (GRCm39) M1V probably null Het
Vmn2r87 A G 10: 130,314,869 (GRCm39) V239A probably damaging Het
Vwce T A 19: 10,636,956 (GRCm39) C679* probably null Het
Zfp385b C T 2: 77,246,185 (GRCm39) A281T probably benign Het
Zfp398 T G 6: 47,843,529 (GRCm39) L395W probably damaging Het
Zfp442 C T 2: 150,293,321 (GRCm39) probably null Het
Zfp606 A G 7: 12,226,871 (GRCm39) S331G probably benign Het
Zfp882 A G 8: 72,668,484 (GRCm39) H437R probably damaging Het
Other mutations in Gli3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Gli3 APN 13 15,818,884 (GRCm39) missense probably damaging 1.00
IGL00471:Gli3 APN 13 15,898,354 (GRCm39) critical splice donor site probably null
IGL00484:Gli3 APN 13 15,818,977 (GRCm39) missense possibly damaging 0.84
IGL00588:Gli3 APN 13 15,818,977 (GRCm39) missense possibly damaging 0.84
IGL01161:Gli3 APN 13 15,722,983 (GRCm39) critical splice acceptor site probably null
IGL01633:Gli3 APN 13 15,823,219 (GRCm39) missense probably damaging 1.00
IGL01799:Gli3 APN 13 15,900,746 (GRCm39) missense probably benign 0.00
IGL01861:Gli3 APN 13 15,899,910 (GRCm39) missense probably damaging 1.00
IGL02063:Gli3 APN 13 15,900,957 (GRCm39) missense possibly damaging 0.94
IGL02112:Gli3 APN 13 15,837,099 (GRCm39) missense probably damaging 1.00
IGL02255:Gli3 APN 13 15,823,304 (GRCm39) missense probably damaging 1.00
IGL02270:Gli3 APN 13 15,901,371 (GRCm39) utr 3 prime probably benign
IGL02336:Gli3 APN 13 15,894,874 (GRCm39) missense probably damaging 1.00
IGL02346:Gli3 APN 13 15,898,278 (GRCm39) missense probably damaging 1.00
IGL02744:Gli3 APN 13 15,788,471 (GRCm39) critical splice donor site probably null
IGL02877:Gli3 APN 13 15,899,327 (GRCm39) missense probably damaging 1.00
IGL02975:Gli3 APN 13 15,899,153 (GRCm39) missense probably damaging 1.00
IGL03018:Gli3 APN 13 15,834,717 (GRCm39) missense probably damaging 1.00
IGL03378:Gli3 APN 13 15,819,005 (GRCm39) missense probably damaging 1.00
IGL03406:Gli3 APN 13 15,823,166 (GRCm39) missense probably damaging 1.00
Capone UTSW 13 15,889,619 (GRCm39) missense probably damaging 1.00
Carpals UTSW 13 15,888,235 (GRCm39) critical splice donor site probably null
Ness UTSW 13 15,898,140 (GRCm39) missense probably damaging 1.00
FR4737:Gli3 UTSW 13 15,818,942 (GRCm39) missense probably damaging 1.00
R0110:Gli3 UTSW 13 15,899,370 (GRCm39) missense probably damaging 1.00
R0329:Gli3 UTSW 13 15,898,143 (GRCm39) missense probably damaging 0.98
R0330:Gli3 UTSW 13 15,898,143 (GRCm39) missense probably damaging 0.98
R0360:Gli3 UTSW 13 15,899,349 (GRCm39) missense probably benign 0.32
R0364:Gli3 UTSW 13 15,899,349 (GRCm39) missense probably benign 0.32
R0469:Gli3 UTSW 13 15,899,370 (GRCm39) missense probably damaging 1.00
R0616:Gli3 UTSW 13 15,836,991 (GRCm39) missense possibly damaging 0.75
R0639:Gli3 UTSW 13 15,899,300 (GRCm39) missense probably damaging 1.00
R1072:Gli3 UTSW 13 15,888,190 (GRCm39) missense probably damaging 1.00
R1257:Gli3 UTSW 13 15,900,581 (GRCm39) nonsense probably null
R1270:Gli3 UTSW 13 15,898,329 (GRCm39) missense probably benign 0.02
R1424:Gli3 UTSW 13 15,900,899 (GRCm39) missense probably benign 0.00
R1481:Gli3 UTSW 13 15,788,435 (GRCm39) missense probably damaging 0.99
R1596:Gli3 UTSW 13 15,900,056 (GRCm39) missense possibly damaging 0.74
R1628:Gli3 UTSW 13 15,900,897 (GRCm39) missense probably benign 0.00
R1721:Gli3 UTSW 13 15,900,882 (GRCm39) missense probably benign 0.27
R1797:Gli3 UTSW 13 15,888,097 (GRCm39) missense probably damaging 0.99
R1813:Gli3 UTSW 13 15,823,276 (GRCm39) missense probably damaging 1.00
R1819:Gli3 UTSW 13 15,900,377 (GRCm39) nonsense probably null
R1988:Gli3 UTSW 13 15,900,965 (GRCm39) missense probably benign
R2132:Gli3 UTSW 13 15,900,134 (GRCm39) missense possibly damaging 0.74
R2352:Gli3 UTSW 13 15,836,977 (GRCm39) missense probably benign 0.02
R3085:Gli3 UTSW 13 15,835,526 (GRCm39) missense probably damaging 1.00
R3177:Gli3 UTSW 13 15,900,567 (GRCm39) missense probably benign 0.28
R3277:Gli3 UTSW 13 15,900,567 (GRCm39) missense probably benign 0.28
R4162:Gli3 UTSW 13 15,899,700 (GRCm39) missense possibly damaging 0.93
R4497:Gli3 UTSW 13 15,898,156 (GRCm39) missense possibly damaging 0.74
R4526:Gli3 UTSW 13 15,888,216 (GRCm39) missense probably damaging 1.00
R4979:Gli3 UTSW 13 15,899,049 (GRCm39) missense possibly damaging 0.87
R5327:Gli3 UTSW 13 15,723,092 (GRCm39) missense probably damaging 0.99
R5395:Gli3 UTSW 13 15,889,535 (GRCm39) missense probably damaging 1.00
R5494:Gli3 UTSW 13 15,900,567 (GRCm39) missense probably benign 0.28
R5609:Gli3 UTSW 13 15,723,038 (GRCm39) missense possibly damaging 0.82
R5718:Gli3 UTSW 13 15,652,750 (GRCm39) critical splice donor site probably null
R5810:Gli3 UTSW 13 15,818,894 (GRCm39) missense probably damaging 0.99
R5896:Gli3 UTSW 13 15,900,765 (GRCm39) missense probably benign 0.00
R5930:Gli3 UTSW 13 15,723,210 (GRCm39) missense probably damaging 1.00
R5964:Gli3 UTSW 13 15,900,747 (GRCm39) nonsense probably null
R5985:Gli3 UTSW 13 15,898,140 (GRCm39) missense probably damaging 1.00
R6224:Gli3 UTSW 13 15,899,730 (GRCm39) missense probably benign
R6278:Gli3 UTSW 13 15,899,698 (GRCm39) missense possibly damaging 0.69
R6330:Gli3 UTSW 13 15,899,317 (GRCm39) missense probably damaging 1.00
R6523:Gli3 UTSW 13 15,888,235 (GRCm39) critical splice donor site probably null
R7072:Gli3 UTSW 13 15,900,280 (GRCm39) missense possibly damaging 0.51
R7085:Gli3 UTSW 13 15,889,647 (GRCm39) missense probably damaging 1.00
R7228:Gli3 UTSW 13 15,899,087 (GRCm39) missense probably benign 0.00
R7327:Gli3 UTSW 13 15,900,144 (GRCm39) missense probably benign 0.02
R7451:Gli3 UTSW 13 15,900,876 (GRCm39) missense possibly damaging 0.50
R7974:Gli3 UTSW 13 15,900,841 (GRCm39) missense probably benign 0.00
R8167:Gli3 UTSW 13 15,900,228 (GRCm39) missense probably benign 0.00
R8170:Gli3 UTSW 13 15,894,793 (GRCm39) missense probably benign
R8199:Gli3 UTSW 13 15,900,576 (GRCm39) missense probably benign 0.08
R8247:Gli3 UTSW 13 15,901,360 (GRCm39) missense possibly damaging 0.82
R8332:Gli3 UTSW 13 15,888,133 (GRCm39) missense possibly damaging 0.58
R8347:Gli3 UTSW 13 15,898,110 (GRCm39) missense probably damaging 1.00
R8559:Gli3 UTSW 13 15,834,717 (GRCm39) missense probably damaging 1.00
R8676:Gli3 UTSW 13 15,889,619 (GRCm39) missense probably damaging 1.00
R8905:Gli3 UTSW 13 15,901,116 (GRCm39) missense probably benign 0.01
R9099:Gli3 UTSW 13 15,901,320 (GRCm39) missense probably damaging 1.00
R9260:Gli3 UTSW 13 15,899,675 (GRCm39) missense probably damaging 0.99
R9317:Gli3 UTSW 13 15,889,658 (GRCm39) missense probably damaging 1.00
R9475:Gli3 UTSW 13 15,900,296 (GRCm39) missense possibly damaging 0.87
R9546:Gli3 UTSW 13 15,788,443 (GRCm39) missense probably benign 0.00
R9571:Gli3 UTSW 13 15,900,858 (GRCm39) missense probably benign 0.00
R9621:Gli3 UTSW 13 15,901,253 (GRCm39) missense probably benign 0.01
R9704:Gli3 UTSW 13 15,898,058 (GRCm39) missense probably damaging 1.00
R9787:Gli3 UTSW 13 15,900,386 (GRCm39) missense probably damaging 0.96
RF010:Gli3 UTSW 13 15,900,954 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGAACTGTCATTTTGGCTCC -3'
(R):5'- TAGGGTGGGACGTACCATTTC -3'

Sequencing Primer
(F):5'- GAACTGTCATTTTGGCTCCCTCTC -3'
(R):5'- GGACGTACCATTTCCTATGAGAG -3'
Posted On 2018-05-04